PTCH1-keimlinien-pathogene Variante
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-PTCH1-GERMLINE |
|---|---|
| Art | Biomarker |
| Aliase | PTCH1 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Erkrankungen | DIS-BCC |
| Quellen | SRC-NCCN-SKIN-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"functional_impact": "loss_of_function", "gene": "PTCH1", "gene_hugo_id": "HGNC:9585", "variant_type": "missense_or_truncating"} |
| Verwandte Biomarker | BIO-PTCH1 |
Anmerkungen
PTCH1 germline — drives Gorlin / Nevoid Basal Cell Carcinoma Syndrome (NBCCS). Hedgehog-pathway dysregulation. Hallmarks: multiple BCCs (often early-onset, sun-protected areas), odontogenic keratocysts of jaw, palmar/plantar pits, macrocephaly, calcified falx cerebri, skeletal anomalies (bifid ribs), childhood medulloblastoma (SHH-subtype, ~5%). AVOID therapeutic radiation when feasible — radiation drives BCC formation. Smoothened inhibitors (vismodegib, sonidegib) for advanced BCC. STUB pending two-Co-Lead signoff.
Verwendet von
Therapeutische Relevanz
BMA-PTCH1-GERMLINE-NBCCS-GORLIN- PTCH1 keimbahnpathogene Varianten verursachen Nevoid Basalzellkarzinom-Syndrom (NBCCS / Go...